A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom
نویسندگان
چکیده
منابع مشابه
A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism.
Address for correspondence: İsmail Hakkı Kalkan, MD, Attar Sokak 21/14, Gaziosmanpaşa/ Çankaya 06700, ankara, Turkey, Tel.: +90 505 270 40 85, e-mail: [email protected] Received 13-03-12, Revised 15-06-12, Accepted 02-07-12 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phos...
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We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2-->7.2 mIU/ml) and follicle-stimulating hormone (7.1-->44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13-->11 pg/ml). The results suggest that pr...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2018
ISSN: 1471-2350
DOI: 10.1186/s12881-018-0723-5